Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2066845
rs2066845
1.000 GeneticVariation BEFREE Previous studies have identified that genetic variations at rs2066844, rs2066845, rs2066847 are associated with diminished enteric α-defensins in ileal Crohn's disease (CD). 31403980

2019

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation BEFREE Cycloheximide (CHX)-chase half-life assays have been used to show that O-GlcNAcylation increases the stability and response of both wild type and Crohn's variant Nod2, R702W. 29671171

2018

dbSNP: rs2066845
rs2066845
1.000 GeneticVariation BEFREE Mutations of Nod2 (R702W, G908R and 1007 fs) are associated with Crohn's disease and have lower stabilities compared to wild type. 29671171

2018

dbSNP: rs2066845
rs2066845
1.000 GeneticVariation BEFREE Carrier frequency for the Gly908Arg mutation in CD and UC patients was 8/25 (32%) and 3/25 (12%), respectively (P = 0.08). 30430799

2018

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908

2017

dbSNP: rs2066845
rs2066845
1.000 GeneticVariation BEFREE Polymorphisms of NOD2 (R702W, G908R and L1007fs) and TLR4 (Asp299Gly and Thr399Ile) genes were analyzed in 106 patients with IBD (68 with ulcerative colitis [UC], 38 with Crohn's disease [CD]) and 160 healthy controls using polymerase chain reaction-restriction fragment length polymorphism. 29055077

2017

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation UNIPROT Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs). 27812135

2016

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation BEFREE In addition, the NOD2 variant rs2066844, which is associated with susceptibility to Crohn's disease, was significantly correlated with an impairment in MBL-MASP functional activity. 27404661

2016

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation BEFREE Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs). 27812135

2016

dbSNP: rs2066845
rs2066845
1.000 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs2066845
rs2066845
1.000 GeneticVariation UNIPROT Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs). 27812135

2016

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation BEFREE None of the patients with orofacial granulomatosis carried any of the NOD2 variations, whereas four of the 12 patients with coexisting Crohn's disease had a NOD2 variant (Arg702Trp). 24645728

2015

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation BEFREE In contrast to the strong associations of the NOD2 SNPs rs2066844 (p=3.51 x 10(-3)), rs2066845 (p=1.54 x 10(-2)), and rs2066847 (p=1.61 x 10(-20)) with CD susceptibility, no significant association of rs72796353 with CD or UC susceptibility was found. 26147989

2015

dbSNP: rs2066845
rs2066845
1.000 GeneticVariation BEFREE In contrast to the strong associations of the NOD2 SNPs rs2066844 (p=3.51 x 10(-3)), rs2066845 (p=1.54 x 10(-2)), and rs2066847 (p=1.61 x 10(-20)) with CD susceptibility, no significant association of rs72796353 with CD or UC susceptibility was found. 26147989

2015

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation UNIPROT The molecular chaperone HSP70 binds to and stabilizes NOD2, an important protein involved in Crohn disease. 24790089

2014

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation UNIPROT Interaction between NOD2 and CARD9 involves the NOD2 NACHT and the linker region between the NOD2 CARDs and NACHT domain. 24960071

2014

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation BEFREE Activation of NOD2 in HEK293 cells overexpressing NOD2 induced the IL-17C promoter, an activity that was significantly reduced in cells overexpressing the Crohn's disease-associated NOD2 mutation 3020insC (1007fs) or the Crohn's disease- and atopic dermatitis-associated NOD2-R702W variant. 23892590

2014

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation BEFREE In a case-control design, 204 Algerian with CD diagnosed for at least 5years and 201 controls were included were genotyped for single nucleotide polymorphisms (SNP) in the NOD2/CARD15 gene R702W (SNP8, rs2066844), G908R (SNP12, rs2066845) and IL23R R381Q (rs11209026) gene variants were determined using the TaqMan SNP genotyping assays. 24679666

2014

dbSNP: rs2066845
rs2066845
1.000 GeneticVariation UNIPROT The molecular chaperone HSP70 binds to and stabilizes NOD2, an important protein involved in Crohn disease. 24790089

2014

dbSNP: rs2066845
rs2066845
1.000 GeneticVariation UNIPROT Interaction between NOD2 and CARD9 involves the NOD2 NACHT and the linker region between the NOD2 CARDs and NACHT domain. 24960071

2014

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation BEFREE Only two patients with early onset Crohn's disease exhibited rare deleterious variations within NOD2: the previously described R702W variant was the sole NOD2 variant in one patient, while the second patient also carried the L1007 frameshift insertion. 22543157

2013

dbSNP: rs2066845
rs2066845
1.000 GeneticVariation BEFREE Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.87×10(-2) for 1007fs, R720W, and G908R, respectively), but not with ulcerative colitis (p=0.1046, 0.1269, and 0.8929, respectively). 23709157

2013

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation BEFREE Three main variants of this gene: two single nucleotide polymorphisms p.Arg702Trp and p.Gly908Arg substitutions and frameshift polymorphism p.Leu1007fsinsC are involved in susceptibility to Crohn's disease. 22266421

2012

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation BEFREE Crohn's disease-associated NOD 2 variants (Arg702Trp and 3020insC) were found to be monomorphic (wild), and 7 subjects were heterozygous for Gly908Arg SNP in 263 patients with tuberculosis, 260 patients with leprosy and 270 healthy controls residing in northern Indian states. 22289211

2012

dbSNP: rs2066844
rs2066844
1.000 GeneticVariation BEFREE An association with CD was found for the classical single nucleotide polymorphism (SNP) 1007fs (2.6% CD, 0% HC, P = 0.012); there was no association when the genotypic and allelic frequencies of the risk alleles were compared for SNPs R702W and G908R. 22447396

2012